Global implementation of genomic medicine: We are not alone

Around the world, innovative genomic-medicine programs capitalize on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles or disease burdens. Such individual eforts might beneft from the sharing of approaches and lessons learned in other locales. The U.S. National Human Genome Research Institute and the National Academy of Medicine recently brought together 25 of these groups to compare projects, to examine the current state of implementation and desired near-term capabilities, and to identify opportunities for collaboration that promote the responsible practice of genomic medicine. Eforts to coalesce these groups around concrete but compelling signature projects should accelerate the responsible implementation of genomic medicine in eforts to improve clinical care worldwide.0SCOPUS: re.jSCOPUS: re.jinfo:eu-repo/semantics/publishe

Associations between findings on cranial magnetic resonance imaging and retinal photography in the elderly: The cardiovascular health study

10.1093/aje/kwj350American Journal of Epidemiology165178-8

Retinal microvascular signs, cognitive function, and dementia in older person: The Cardiovascular Health Study

10.1161/STROKEAHA.107.483586Stroke3872041-204

The prevalence and risk factors of retinal microvascular abnormalities in older persons: The cardiovascular health study

10.1016/S0161-6420(02)01931-0Ophthalmology1104658-666OPHT

eALPS: Estimating Abundance Levels in Pooled Sequencing Using Available Genotyping Data

The recent advances in high-throughput sequencing technologies bring the potential of a better characterization of the genetic variation in humans and other organisms. In many occasions, either by design or by necessity, the sequencing procedure is performed on a pool of DNA samples with different abundances, where the abundance of each sample is unknown. Such a scenario is naturally occurring in the case of metagenomics analysis where a pool of bacteria is sequenced, or in the case of population studies involving DNA pools by design. Particularly, various pooling designs were recently suggested that can identify carriers of rare alleles in large cohorts, dramatically reducing the cost of such large-scale sequencing projects. A fundamental problem with such approaches for population studies is that the uncertainly of DNA proportions from different individuals in the pools might lead to spurious associations. Fortunately, it is often the case that the genotype data of at least some of the individuals in the pool is known. Here, we propose a method (eALPS) that uses the genotype data in conjunction with the pooled sequence data in order to accurately estimate the proportions of the samples in the pool, even in cases where not all individuals in the pool were genotyped (eALPS-LD). Using real data from a sequencing pooling study of Non-Hodgkin's Lymphoma, we demonstrate that the estimation of the proportions is crucial, since otherwise there is a risk for false discoveries. Additionally, we demonstrate that our approach is also applicable to the problem of quantification of species in metagenomics samples (eALPS-BCR), and is particularly suitable for metagenomic quantification of closely-related species. © 2013 Springer-Verlag